Dear mother-to be,
You’ll be soon experiencing a miraculous event in your life: the birth of your baby. This may be the very first time for you or you may have other children.Like any mother, you dream of a wonderful life for your baby; the first step towards a healthy life is the newborn extended metabolic screening.

In all developed countries, SNE is a routine and mandatory analysis performed on each newborn.

What is the newborn extended metabolic screening?

The first gift from you to your baby!

The newborn extended metabolic screening test can identify babies with metabolic, endocrine, or haematological conditions before the first symptoms occur, thus preventing or reducing the manifestations of the disease. In order to perform the test, a few drops of blood collected on a special filtering paper are needed, drawn more than 48 hours after the baby is born.
Unless they are treated at an early stage, such conditions cause growth delay, developmental delay, various organ dysfunctions and often early death.

It is well known that the food we eatis being decomposed inside the body into simpler elements – proteins, fats, and carbohydrates – used afterwards forthe biosynthesis of other compounds and energy necessary for the body to function properly. This process is known called metabolism.

The initial metabolic events are triggered when food gets into the stomach and digestion starts. Various types of enzymes help decompose the food digested into simpler substances.
These are absorbed by the cells, where they are further transformed into new substances and energy needed for other biochemical processes.
Metabolic imbalances due to inherited disorderslead to clinical manifestations and disorders called inborn errors of metabolism. During the first period of life, there might be a period without symptoms, which can be followed by signs of an acute intoxication (vomiting, liver failure, spasms, and coma) or chronic disease(cardiomyopathy).

When can newborn extended metabolic screening be performed?

All newborns should have this test done. Any clinically healthy individual may carry a mutation causing a metabolic disease without having any symptom

If both parents are carriers and each of them passes on their mutation to their child, the child will be affected. It is therefore recommended that all parents think to have this test done for their newborn baby.

CytoGenomic Laboratory collaborates with several hospitals and clinics in Romania. If the you give birth in a hospital that is not among our collaborators and you want your baby to benefit from the Extended Newborn Metabolic Screening you can take the analysis kit from our headquarters and ask the maternity hospital staff to draw the sample.

Early diagnosis and immediate initiation of the appropriate treatment help prevent complications and the permanent impairment of your child’s health, thus ensuring a better life.

How should newborn metabolic screening be performed?

This analysis is performed from blood spots collected on filtering paper, drawn directly in the maternity hospital by specialized staff between 48 – 72 hours since the feeding was initiated.

It is particularly important to draw the samples correctly in order to have accurate results.

The liquid chromatographyand mass spectrometry (LC-MS/MS)system owned by CytoGenomic Laboratory is among the latest and high performance piece of equipment, which allows the detection ofmore than 51 such disorders simultaneously.
CytoGenomic Laboratory uses reference values of the metabolic parameters analysed which are characteristic for the Romanian population, the mass spectrometry study starting almost one year before this test was officially introduced. In case the results of the Extended Newborn Metabolic Screening do not fall within the normal thresholds, it does not necessarily mean there is a metabolic condition; it is therefore necessary to perform additional investigations to confirm the diagnosis. There are generally two reasons for which it may be necessary to repeat the test:
(1) the sample was drawn incorrectly, or
(2) the test results do not fall within the normal limits – in this case, the result report will include information about the appropriate time and circumstances for drawing a new sample.
CytoGenomic Laboratoryhas the support of a doctors’ team specialized in metabolic dysfunctions who will collaborate both with primary care doctors and parents to perform a complete clinical evaluation of the baby, and to decide upon the subsequent diagnostic tests. As agenetic diagnosis laboratory providing services of the highest standards, CytoGenomic has expertise in supporting and continuing the investigation of high risk cases.